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Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis
Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible thera...
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| 發表在: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley & Sons, Inc.
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7463052/ https://ncbi.nlm.nih.gov/pubmed/32905047 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12144 |
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